A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3617480



Internal ID7004365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66208510..66209482hg38UCSC Ensembl
Innerchr8:66208511..66209482hg38UCSC Ensembl
Outerchr8:66208510..66209483hg38UCSC Ensembl
chr8:67120745..67121717hg19UCSC Ensembl
Innerchr8:67120746..67121717hg19UCSC Ensembl
Outerchr8:67120745..67121718hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38973
hg19973
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13214351, essv13214343, essv13214344, essv13214323, essv13214345, essv13214327, essv13214358, essv13214338, essv13214356, essv13214308, essv13214328, essv13214354, essv13214325, essv13214337, essv13214359, essv13214319, essv13214313, essv13214322, essv13214310, essv13214304, essv13214317, essv13214332, essv13214311, essv13214333, essv13214330, essv13214312, essv13214334, essv13214349, essv13214309, essv13214303, essv13214339, essv13214331, essv13214306, essv13214326, essv13214305, essv13214316, essv13214336, essv13214321, essv13214352, essv13214318, essv13214340, essv13214348, essv13214353, essv13214314, essv13214329, essv13214315, essv13214324, essv13214350, essv13214355, essv13214320, essv13214307, essv13214347, essv13214335, essv13214357, essv13214302, essv13214346, essv13214342, essv13214341
SamplesNA19700, NA12842, NA20878, HG02661, HG03607, HG02277, HG01518, HG01704, NA07357, HG03603, HG01341, NA21135, HG01351, NA20911, HG00158, NA20910, NA06984, HG00236, HG00262, NA21114, HG00253, HG00108, NA20818, NA12777, HG01139, NA12489, NA19657, HG00176, HG01501, NA19670, NA12003, HG00320, HG03491, NA20876, HG03967, HG01047, HG00350, HG00141, HG00240, HG01700, NA20773, NA12716, HG04188, NA20351, NA20790, HG00237, NA20797, NA12347, HG03779, NA19779, HG00123, HG02239, HG00112, HG01781, NA20502, NA19758, NA07000, HG03686
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3617480
Frequency
Sample Size2504
Observed Gain0
Observed Loss58
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer