A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721602



Internal ID10305238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230536455..230537026hg38UCSC Ensembl
Outerchr2:231401170..231401741hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38572
hg19572
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847770, essv6955553, essv6920784, essv6704249, essv6707672, essv6773876
SamplesSSM041, SSM026, SSM003, SSM086, SSM066, SSM040
Known GenesSP100
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)esv2721602
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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