A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15676244



Internal ID3916190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41227950..41239873hg38UCSC Ensembl
Innerchr17:41227950..41239873hg38UCSC Ensembl
Outerchr17:41227450..41240373hg38UCSC Ensembl
chr17:39384202..39396125hg19UCSC Ensembl
Innerchr17:39384202..39396125hg19UCSC Ensembl
Outerchr17:39383702..39396625hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3811924
hg1911924
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640581
Supporting Variants
SamplesHG03571
Known GenesKRTAP9-3, KRTAP9-8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15676244
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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