A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15666702



Internal ID2648630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:37157610..37159300hg38UCSC Ensembl
Innerchr17:37157660..37159250hg38UCSC Ensembl
Outerchr17:37157560..37159350hg38UCSC Ensembl
chr17:35514524..35516214hg19UCSC Ensembl
Innerchr17:35514574..35516164hg19UCSC Ensembl
Outerchr17:35514474..35516264hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381691
hg191691
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640486
Supporting Variants
SamplesHG02343
Known GenesACACA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15666702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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