A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15678544



Internal ID2258642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41301461..41302084hg38UCSC Ensembl
Innerchr17:41301511..41302034hg38UCSC Ensembl
Outerchr17:41301393..41302152hg38UCSC Ensembl
chr17:39457713..39458336hg19UCSC Ensembl
Innerchr17:39457763..39458286hg19UCSC Ensembl
Outerchr17:39457645..39458404hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38624
hg19624
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640583
Supporting Variants
SamplesHG02020
Known GenesKRTAP29-1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15678544
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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