A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674480



Internal ID5786724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:40222698..40224276hg38UCSC Ensembl
Innerchr17:40222713..40224261hg38UCSC Ensembl
Outerchr17:40222683..40224291hg38UCSC Ensembl
chr17:38378950..38380528hg19UCSC Ensembl
Innerchr17:38378965..38380513hg19UCSC Ensembl
Outerchr17:38378935..38380543hg19UCSC Ensembl
Cytoband17q21.1
Allele length
AssemblyAllele length
hg381579
hg191579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640553
Supporting Variants
SamplesNA19152
Known GenesWIPF2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674480
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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