A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15672912



Internal ID4839446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38408220..38411324hg38UCSC Ensembl
Innerchr17:38408220..38411324hg38UCSC Ensembl
Outerchr17:38407715..38411824hg38UCSC Ensembl
chr17:36564468..36567567hg19UCSC Ensembl
Innerchr17:36564468..36567567hg19UCSC Ensembl
Outerchr17:36563968..36568067hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg383105
hg193100
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640523
Supporting Variants
SamplesNA12154
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15672912
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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