A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15664505



Internal ID5666321
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640441
Supporting Variants
SamplesHG03708
Known GenesSLC35G3, UNC45B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15664505
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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