A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593761



Internal ID6981084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:191130447..191133807hg38UCSC Ensembl
chr2:191995173..191998533hg19UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg383361
hg193361
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10803600, essv10803609, essv10803655, essv10803624, essv10803656, essv10803616, essv10803612, essv10803636, essv10803654, essv10803575, essv10803619, essv10803578, essv10803643, essv10803632, essv10803593, essv10803576, essv10803623, essv10803602, essv10803581, essv10803586, essv10803611, essv10803582, essv10803628, essv10803595, essv10803592, essv10803659, essv10803633, essv10803621, essv10803587, essv10803650, essv10803597, essv10803584, essv10803649, essv10803631, essv10803605, essv10803639, essv10803627, essv10803604, essv10803580, essv10803653, essv10803596, essv10803610, essv10803648, essv10803608, essv10803599, essv10803642, essv10803638, essv10803588, essv10803647, essv10803637, essv10803603, essv10803658, essv10803644, essv10803583, essv10803601, essv10803591, essv10803585, essv10803598, essv10803652, essv10803615, essv10803577, essv10803618, essv10803630, essv10803606, essv10803613, essv10803651, essv10803614, essv10803657, essv10803590, essv10803622, essv10803625, essv10803579, essv10803641, essv10803620, essv10803646, essv10803617, essv10803634, essv10803626, essv10803640, essv10803635, essv10803589, essv10803629, essv10803594, essv10803645, essv10803607
SamplesHG02614, HG01173, NA18924, HG03052, NA19204, NA19704, HG02318, NA19350, NA19092, HG03193, HG03139, HG03577, HG02589, NA19314, HG01140, HG03095, HG03133, HG03082, HG02811, HG03168, HG03135, HG02840, HG03485, NA19131, NA07347, HG02054, NA19904, HG03793, HG03910, HG02315, HG02573, HG01628, NA20412, HG02623, NA19456, HG03055, HG03649, HG02882, NA20318, HG03048, HG02819, NA20818, HG02943, HG03061, HG03511, HG01979, NA19236, NA18516, NA18910, HG02968, HG03027, HG02497, HG02470, HG02537, HG02429, NA19449, HG03397, NA19257, HG02666, NA19225, HG03354, HG01990, NA19375, NA19308, HG02557, HG01190, NA18517, HG02799, HG02308, HG02314, HG03259, HG02941, HG03019, HG02095, HG03025, NA19474, HG03258, HG02768, HG03410, HG02013, NA19711, NA19900, HG02284, HG01886, HG02643
Known GenesSTAT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593761
Frequency
Sample Size2504
Observed Gain0
Observed Loss85
Observed Complex0
Frequencyn/a


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