A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639717



Internal ID7026495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:2737667..2741413hg38UCSC Ensembl
Innerchr17:2737667..2741413hg38UCSC Ensembl
Outerchr17:2737167..2741913hg38UCSC Ensembl
chr17:2640961..2644707hg19UCSC Ensembl
Innerchr17:2640961..2644707hg19UCSC Ensembl
Outerchr17:2640461..2645207hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg383747
hg193747
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15584591, essv15584597, essv15584590, essv15584607, essv15584592, essv15584593, essv15584604, essv15584595, essv15584605, essv15584603, essv15584598, essv15584599, essv15584600, essv15584601, essv15584596, essv15584594, essv15584602, essv15584606
SamplesHG02337, HG03172, NA18510, HG03135, HG02549, HG03352, HG03583, HG02879, NA19403, NA19984, HG03202, NA19225, HG02010, HG03108, HG02771, NA19096, HG03077, HG02629
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639717
Frequency
Sample Size2504
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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