A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611735



Internal ID6998640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170343270..170344482hg38UCSC Ensembl
Innerchr6:170343280..170344472hg38UCSC Ensembl
Outerchr6:170343260..170344492hg38UCSC Ensembl
chr6:170652358..170653570hg19UCSC Ensembl
Innerchr6:170652368..170653560hg19UCSC Ensembl
Outerchr6:170652348..170653580hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg381213
hg191213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12653382, essv12653387, essv12653394, essv12653385, essv12653392, essv12653390, essv12653393, essv12653381, essv12653399, essv12653384, essv12653401, essv12653398, essv12653397, essv12653396, essv12653403, essv12653402, essv12653388, essv12653389, essv12653391, essv12653386, essv12653404, essv12653400, essv12653395, essv12653383
SamplesHG03096, HG02870, NA18504, HG03193, HG03578, HG03189, HG02946, NA18908, NA19913, HG03457, HG02144, HG03301, NA19118, NA18499, HG02881, HG02283, NA19395, NA19390, HG03437, HG02941, HG02974, HG03157, HG03060, NA19030
Known GenesFAM120B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611735
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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