A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638030



Internal ID6678128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:15407892..15409161hg38UCSC Ensembl
Innerchr16:15407892..15409161hg38UCSC Ensembl
Outerchr16:15407682..15409338hg38UCSC Ensembl
chr16:15501749..15503018hg19UCSC Ensembl
Innerchr16:15501749..15503018hg19UCSC Ensembl
Outerchr16:15501539..15503195hg19UCSC Ensembl
Cytoband16p13.11
Allele length
AssemblyAllele length
hg381270
hg191270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15385604, essv15385608, essv15385601, essv15385605, essv15385603, essv15385606, essv15385607, essv15385602
SamplesNA19913, NA19904, NA19028, NA19443, HG03169, HG02489, NA19198, NA19200
Known GenesMPV17L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638030
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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