A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639386



Internal ID6679480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:83210052..83211135hg38UCSC Ensembl
Innerchr16:83210052..83211135hg38UCSC Ensembl
Outerchr16:83209742..83211388hg38UCSC Ensembl
chr16:83243657..83244740hg19UCSC Ensembl
Innerchr16:83243657..83244740hg19UCSC Ensembl
Outerchr16:83243347..83244993hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15545329, essv15545331, essv15545332, essv15545333, essv15545330, essv15545327, essv15545328, essv15545334, essv15545335
SamplesHG01790, HG00186, HG01615, HG03229, HG00269, HG00315, HG00325, HG00263, HG00288
Known GenesCDH13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639386
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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