A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591202



Internal ID6978530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:70187273..70188212hg38UCSC Ensembl
Innerchr2:70187340..70188145hg38UCSC Ensembl
Outerchr2:70187206..70188279hg38UCSC Ensembl
chr2:70414405..70415344hg19UCSC Ensembl
Innerchr2:70414472..70415277hg19UCSC Ensembl
Outerchr2:70414338..70415411hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg38940
hg19940
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10536671
SamplesHG01990
Known GenesC2orf42
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591202
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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