A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10660983



Internal ID1098663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:126554649..126591321hg38UCSC Ensembl
Innerchr2:126554668..126591303hg38UCSC Ensembl
Outerchr2:126554631..126591340hg38UCSC Ensembl
chr2:127312226..127348898hg19UCSC Ensembl
Innerchr2:127312245..127348880hg19UCSC Ensembl
Outerchr2:127312208..127348917hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3836673
hg1936673
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592340
Supporting Variants
SamplesHG00731
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10660983
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