A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10887610



Internal ID1717406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238547995..238549784hg38UCSC Ensembl
Innerchr2:238548025..238549754hg38UCSC Ensembl
Outerchr2:238547965..238549814hg38UCSC Ensembl
chr2:239456636..239458425hg19UCSC Ensembl
Innerchr2:239456666..239458395hg19UCSC Ensembl
Outerchr2:239456606..239458455hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381790
hg191790
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3594763
Supporting Variants
SamplesHG01597
Known GenesLINC01107
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10887610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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