A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15514828



Internal ID6235747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:71931691..71955811hg38UCSC Ensembl
Innerchr16:71931691..71955811hg38UCSC Ensembl
Outerchr16:71931191..71956311hg38UCSC Ensembl
chr16:71965594..71989710hg19UCSC Ensembl
Innerchr16:71965594..71989710hg19UCSC Ensembl
Outerchr16:71965094..71990210hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3824121
hg1924117
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638985
Supporting Variants
SamplesNA19761
Known GenesPKD1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15514828
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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