A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594662



Internal ID6981982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232648375..232650236hg38UCSC Ensembl
Innerchr2:232648385..232650226hg38UCSC Ensembl
Outerchr2:232648365..232650246hg38UCSC Ensembl
chr2:233513085..233514946hg19UCSC Ensembl
Innerchr2:233513095..233514936hg19UCSC Ensembl
Outerchr2:233513075..233514956hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381862
hg191862
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10877657, essv10877660, essv10877661, essv10877662, essv10877663, essv10877664, essv10877656, essv10877658, essv10877659
SamplesHG03298, HG03455, HG03195, NA19707, HG03428, HG03027, HG03123, HG03473, NA19096
Known GenesEFHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594662
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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