A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6203768



Internal ID8787850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:20715863..20716789hg38UCSC Ensembl
Outerchr2:20715706..20716942hg38UCSC Ensembl
Innerchr2:20915623..20916549hg19UCSC Ensembl
Outerchr2:20915466..20916702hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg381237
hg191237
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2662336
Supporting Variants
SamplesHG00231
Known GenesC2orf43
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6203768
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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