A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594816



Internal ID6982136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241076959..241078298hg38UCSC Ensembl
Innerchr2:241076990..241078267hg38UCSC Ensembl
Outerchr2:241076928..241078329hg38UCSC Ensembl
chr2:242016374..242017713hg19UCSC Ensembl
Innerchr2:242016405..242017682hg19UCSC Ensembl
Outerchr2:242016343..242017744hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381340
hg191340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10891597, essv10891595, essv10891596, essv10891598
SamplesNA19782, HG00110, NA19072, NA20772
Known GenesSNED1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594816
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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