A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671944



Internal ID9591363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:70081536..70082600hg38UCSC Ensembl
Outerchr2:70081379..70082763hg38UCSC Ensembl
Innerchr2:70308668..70309732hg19UCSC Ensembl
Outerchr2:70308511..70309895hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6407934, essv6476781
SamplesHG00346, HG00327
Known GenesPCBP1-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671944
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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