A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677814



Internal ID2910901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74843366..74844175hg38UCSC Ensembl
chr2:75070493..75071302hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38810
hg19810
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6463004
SamplesNA19704
Known GenesHK2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677814
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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