A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639829



Internal ID6679919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:6057166..6059550hg38UCSC Ensembl
Innerchr17:6057166..6059550hg38UCSC Ensembl
Outerchr17:6056854..6059799hg38UCSC Ensembl
chr17:5960486..5962870hg19UCSC Ensembl
Innerchr17:5960486..5962870hg19UCSC Ensembl
Outerchr17:5960174..5963119hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg382385
hg192385
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15601406, essv15601428, essv15601416, essv15601399, essv15601423, essv15601402, essv15601396, essv15601407, essv15601429, essv15601409, essv15601427, essv15601397, essv15601398, essv15601404, essv15601421, essv15601419, essv15601413, essv15601410, essv15601425, essv15601394, essv15601415, essv15601405, essv15601424, essv15601400, essv15601412, essv15601403, essv15601411, essv15601422, essv15601417, essv15601395, essv15601420, essv15601408, essv15601418, essv15601414, essv15601401, essv15601430, essv15601426
SamplesNA19204, NA18881, HG03449, NA19020, HG02589, HG03082, HG02562, NA19235, NA19026, NA19456, NA19247, HG03132, HG01187, HG02334, HG03457, NA18915, HG03046, HG03354, NA19160, HG02586, HG02594, HG02675, HG03064, HG02455, HG02807, NA19149, HG02759, NA19037, HG03458, NA19331, HG02314, NA19334, HG03419, HG02855, HG02805, HG03166, HG02760
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639829
Frequency
Sample Size2504
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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