A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594525



Internal ID6634801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226903412..226991156hg38UCSC Ensembl
Innerchr2:226903912..226990656hg38UCSC Ensembl
Outerchr2:226902412..226992156hg38UCSC Ensembl
chr2:227768128..227855872hg19UCSC Ensembl
Innerchr2:227768628..227855372hg19UCSC Ensembl
Outerchr2:227767128..227856872hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3887745
hg1987745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10870007
SamplesHG01302
Known GenesRHBDD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594525
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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