A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721723



Internal ID9956021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237542570..237543141hg38UCSC Ensembl
Outerchr2:238451213..238451784hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836637, essv6679637, essv6847788, essv6739248, essv6797968
SamplesSSM083, SSM086, SSM033, SSM072, SSM052
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)esv2721723
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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