A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670668



Internal ID9936773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46925484..46931670hg38UCSC Ensembl
Outerchr2:46925447..46931720hg38UCSC Ensembl
Innerchr2:47152623..47158809hg19UCSC Ensembl
Outerchr2:47152586..47158859hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg386274
hg196274
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv696e199
Supporting Variantsessv5838681, essv6096660, essv5415390
SamplesHG00512, NA18539, HG00584
Known GenesMCFD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670668
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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