A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10408399



Internal ID2937955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:11254960..11260542hg38UCSC Ensembl
Innerchr2:11255460..11260042hg38UCSC Ensembl
Outerchr2:11253960..11261542hg38UCSC Ensembl
chr2:11395086..11400668hg19UCSC Ensembl
Innerchr2:11395586..11400168hg19UCSC Ensembl
Outerchr2:11394086..11401668hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385583
hg195583
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589814
Supporting Variants
SamplesHG02595
Known GenesROCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10408399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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