A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633347



Internal ID7020156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100553176..100556514hg38UCSC Ensembl
Innerchr13:100553176..100556514hg38UCSC Ensembl
Outerchr13:100552805..100556750hg38UCSC Ensembl
chr13:101205430..101208768hg19UCSC Ensembl
Innerchr13:101205430..101208768hg19UCSC Ensembl
Outerchr13:101205059..101209004hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383339
hg193339
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14875944, essv14875938, essv14875951, essv14875943, essv14875947, essv14875941, essv14875940, essv14875949, essv14875950, essv14875946, essv14875948, essv14875942, essv14875945, essv14875939
SamplesHG00671, HG02026, NA19089, NA19088, HG02067, HG01046, HG02082, NA18645, NA19059, HG00410, HG00580, HG02179, HG01872, NA18984
Known GenesGGACT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633347
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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