A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617862



Internal ID7004746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:84612435..84619291hg38UCSC Ensembl
Innerchr8:84612435..84619291hg38UCSC Ensembl
Outerchr8:84611935..84619791hg38UCSC Ensembl
chr8:85524670..85531526hg19UCSC Ensembl
Innerchr8:85524670..85531526hg19UCSC Ensembl
Outerchr8:85524170..85532026hg19UCSC Ensembl
Cytoband8q21.2
Allele length
AssemblyAllele length
hg386857
hg196857
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13245584, essv13245574, essv13245578, essv13245560, essv13245547, essv13245556, essv13245557, essv13245570, essv13245544, essv13245583, essv13245528, essv13245580, essv13245576, essv13245549, essv13245572, essv13245537, essv13245575, essv13245532, essv13245531, essv13245589, essv13245571, essv13245545, essv13245565, essv13245541, essv13245562, essv13245568, essv13245590, essv13245553, essv13245546, essv13245564, essv13245592, essv13245567, essv13245569, essv13245563, essv13245561, essv13245534, essv13245542, essv13245555, essv13245588, essv13245529, essv13245536, essv13245558, essv13245535, essv13245579, essv13245573, essv13245550, essv13245530, essv13245591, essv13245577, essv13245539, essv13245533, essv13245559, essv13245566, essv13245551, essv13245548, essv13245538, essv13245587, essv13245543, essv13245581, essv13245582, essv13245586, essv13245552, essv13245540, essv13245593, essv13245554, essv13245585
SamplesNA19394, HG02890, HG02702, HG02337, HG01188, HG03455, HG03193, HG03577, NA19443, NA19190, NA19107, HG03095, HG02811, HG03091, HG02620, NA19916, NA19131, HG03246, HG03079, HG01527, NA18864, HG03073, HG02477, NA19200, HG02009, HG02570, NA19462, NA19152, HG03291, NA19327, NA18915, HG02450, HG01880, HG03123, NA19118, NA18499, HG03388, HG02881, NA18853, HG03571, NA19099, HG03046, NA19452, HG01988, HG02675, HG03064, NA19401, HG02799, HG02501, HG02983, HG02923, NA18865, HG03433, HG02580, NA19360, NA19475, HG03084, HG03039, NA19351, HG03049, HG01302, HG02768, NA19121, HG03072, HG02643, HG02760
Known GenesRALYL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617862
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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