A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3637952



Internal ID7024739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:12011360..12015947hg38UCSC Ensembl
Innerchr16:12011413..12015895hg38UCSC Ensembl
Outerchr16:12011308..12016000hg38UCSC Ensembl
chr16:12105217..12109804hg19UCSC Ensembl
Innerchr16:12105270..12109752hg19UCSC Ensembl
Outerchr16:12105165..12109857hg19UCSC Ensembl
Cytoband16p13.13
Allele length
AssemblyAllele length
hg384588
hg194588
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15377341, essv15377337, essv15377339, essv15377342, essv15377338, essv15377343, essv15377340
SamplesHG03385, NA19198, HG02511, HG02554, HG02497, HG03085, HG02971
Known GenesSNX29
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3637952
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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