A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721596



Internal ID9955892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230343086..230343692hg38UCSC Ensembl
Outerchr2:231207801..231208407hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38607
hg19607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6914371, essv6807750, essv6910524, essv6675662, essv6880775, essv6968453, essv6722343, essv6801963, essv6902960, essv6793775, essv6955551, essv6697325, essv6973229, essv6872077, essv6788432
SamplesSSM071, SSM075, SSM038, SSM013, SSM009, SSM073, SSM028, SSM029, SSM026, SSM032, SSM007, SSM015, SSM016, SSM091, SSM012
Known GenesSP140L
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)esv2721596
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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