A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15704911



Internal ID4293551
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56320987..56327489hg38UCSC Ensembl
Innerchr17:56320987..56327489hg38UCSC Ensembl
Outerchr17:56320906..56327565hg38UCSC Ensembl
chr17:54398348..54404850hg19UCSC Ensembl
Innerchr17:54398348..54404850hg19UCSC Ensembl
Outerchr17:54398267..54404926hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg386503
hg196503
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640848
Supporting Variants
SamplesHG03854
Known GenesANKFN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15704911
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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