A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15678927



Internal ID5680743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41382671..41395315hg38UCSC Ensembl
Innerchr17:41382671..41395315hg38UCSC Ensembl
Outerchr17:41382171..41395815hg38UCSC Ensembl
chr17:39538923..39551567hg19UCSC Ensembl
Innerchr17:39538923..39551567hg19UCSC Ensembl
Outerchr17:39538423..39552067hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812645
hg1912645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640586
Supporting Variants
SamplesHG03163
Known GenesKRT31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15678927
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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