A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640553



Internal ID7027328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40222698..40224276hg38UCSC Ensembl
Innerchr17:40222713..40224261hg38UCSC Ensembl
Outerchr17:40222683..40224291hg38UCSC Ensembl
chr17:38378950..38380528hg19UCSC Ensembl
Innerchr17:38378965..38380513hg19UCSC Ensembl
Outerchr17:38378935..38380543hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg381579
hg191579
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674470, essv15674481, essv15674463, essv15674475, essv15674461, essv15674457, essv15674478, essv15674483, essv15674468, essv15674477, essv15674476, essv15674471, essv15674482, essv15674472, essv15674479, essv15674467, essv15674459, essv15674462, essv15674474, essv15674464, essv15674466, essv15674469, essv15674458, essv15674465, essv15674480, essv15674460, essv15674473
SamplesHG01986, HG03559, HG02318, NA19190, NA19920, HG01250, HG02860, HG03578, HG02946, HG03267, HG03394, HG02570, NA19707, NA19152, HG03428, HG02881, HG03571, HG02613, HG03028, HG03240, NA19147, HG02721, HG03473, HG03419, HG03445, NA18511, HG02760
Known GenesWIPF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640553
Frequency
Sample Size2504
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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