A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664686



Internal ID9930791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:49175172..49247858hg38UCSC Ensembl
chr4:49177189..49249875hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg3872687
hg1972687
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5792247, essv6480050, essv6318011, essv6404608, essv6282302, essv6222041, essv5599975, essv6506541, essv6121437, essv5904069, essv5410721, essv6435409, essv6559381, essv6401178, essv5637669, essv5839344, essv5440530, essv6352847, essv6113399, essv6294956, essv5424013, essv6277078, essv6148543, essv5639320, essv5766448, essv6132801, essv5782672, essv5752223, essv5478011, essv6576343, essv6315659, essv6026651, essv6375026, essv6507001, essv6557572, essv5862546, essv6209935, essv6005700, essv5845821, essv5448529, essv6311397, essv6028313, essv6414432, essv6093854, essv5762884, essv5413466, essv5729143, essv5595699, essv6174713, essv5574772, essv5472578, essv5860716, essv6543648, essv6368940, essv6561396, essv5528668, essv5476460, essv5639336, essv5560487, essv5714561, essv6099936, essv5476033, essv6229633, essv5736860, essv6514266, essv6374946, essv6398174, essv6271099, essv5679302, essv6355118, essv6533888, essv6004589, essv6558670, essv6456388, essv6185094, essv5396040, essv5466763, essv6444295, essv6095738, essv6193553, essv5563244, essv6005476
SamplesNA19394, HG01060, HG00650, HG00143, NA19664, HG00361, HG00242, HG01359, NA12273, HG01079, HG01066, HG00306, HG00318, NA19350, HG00179, HG01461, HG01051, NA18988, HG00327, NA19068, HG00641, NA19076, HG01366, HG00589, HG00272, HG00501, HG00173, HG00634, HG00610, HG00247, HG00270, HG01365, NA19681, HG00590, HG00683, HG00106, HG00262, HG01072, HG00182, HG00118, NA18990, HG00637, HG01133, HG00464, HG00108, HG01124, HG01353, HG01136, HG00149, NA19082, HG01171, NA19077, HG00190, HG01095, NA19081, HG00331, HG01101, NA20534, NA19675, HG01148, HG00258, HG00611, NA19440, HG00265, NA19434, NA19072, NA18950, HG00357, HG00136, NA18941, HG00607, HG01489, HG00707, HG00111, HG00312, NA19713, HG00174, NA11843, HG00171, NA19463, HG01061, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664686
Frequency
Sample Size1151
Observed Gain0
Observed Loss82
Observed Complex0
Frequencyn/a


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