A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674263



Internal ID4248024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39035595..39038069hg38UCSC Ensembl
Innerchr17:39035595..39038069hg38UCSC Ensembl
Outerchr17:39035287..39038463hg38UCSC Ensembl
chr17:37191848..37194322hg19UCSC Ensembl
Innerchr17:37191848..37194322hg19UCSC Ensembl
Outerchr17:37191540..37194716hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg382475
hg192475
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640536
Supporting Variants
SamplesHG03817
Known GenesLRRC37A11P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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