A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6722421



Internal ID9650679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237544577..237545183hg38UCSC Ensembl
Outerchr2:238453220..238453826hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721726, esv2721727
Supporting Variants
SamplesSSM007
Known GenesMLPH
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6722421
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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