A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10708790



Internal ID1812673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149151213..149158608hg38UCSC Ensembl
Innerchr2:149151213..149158608hg38UCSC Ensembl
Outerchr2:149151023..149158826hg38UCSC Ensembl
chr2:150007727..150015122hg19UCSC Ensembl
Innerchr2:150007727..150015122hg19UCSC Ensembl
Outerchr2:150007537..150015340hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg387396
hg197396
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592859
Supporting Variants
SamplesHG01685
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10708790
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer