A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5624785



Internal ID9310074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41227364..41239070hg38UCSC Ensembl
Outerchr17:41226993..41239440hg38UCSC Ensembl
Innerchr17:39383616..39395322hg19UCSC Ensembl
Outerchr17:39383245..39395692hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812448
hg1912448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664202
Supporting Variants
SamplesNA18499
Known GenesKRTAP9-2, KRTAP9-3, KRTAP9-8
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5624785
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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