A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15478692



Internal ID6293897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:52570536..52571844hg38UCSC Ensembl
Innerchr16:52570536..52571844hg38UCSC Ensembl
Outerchr16:52570362..52572017hg38UCSC Ensembl
chr16:52604448..52605756hg19UCSC Ensembl
Innerchr16:52604448..52605756hg19UCSC Ensembl
Outerchr16:52604274..52605929hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg381309
hg191309
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638634
Supporting Variants
SamplesNA19835
Known GenesCASC16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15478692
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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