A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10442209



Internal ID2383036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:30509519..30510198hg38UCSC Ensembl
Innerchr2:30509545..30510173hg38UCSC Ensembl
Outerchr2:30509494..30510224hg38UCSC Ensembl
chr2:30732385..30733064hg19UCSC Ensembl
Innerchr2:30732411..30733039hg19UCSC Ensembl
Outerchr2:30732360..30733090hg19UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590200
Supporting Variants
SamplesHG02111
Known GenesLCLAT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10442209
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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