A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640441



Internal ID6680528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35183951..35195954hg38UCSC Ensembl
Innerchr17:35184101..35195804hg38UCSC Ensembl
Outerchr17:35183801..35196104hg38UCSC Ensembl
chr17:33510970..33522973hg19UCSC Ensembl
Innerchr17:33511120..33522823hg19UCSC Ensembl
Outerchr17:33510820..33523123hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3812004
hg1912004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv569e214
Supporting Variantsessv15664506, essv15664503, essv15664504, essv15664505
SamplesNA19917, HG03708, HG03642, HG00628
Known GenesSLC35G3, UNC45B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640441
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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