A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724897



Internal ID9959199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:10355791..10356133hg38UCSC Ensembl
Outerchr3:10397475..10397817hg19UCSC Ensembl
Cytoband3p25.3
Allele length
AssemblyAllele length
hg38343
hg19343
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707706, essv6854028, essv6813608, essv6938191, essv6817190, essv6726348, essv6921162, essv6848387, essv6807783, essv6955641, essv6825544, essv6810695, essv6962391, essv6859808, essv6700183, essv6847844, essv6864606, essv6798005, essv6973335, essv6889462, essv6722489, essv6886351, essv6968509, essv6675706, essv6906650, essv6793834, essv6714747, essv6947020, essv6683267, essv6669803
SamplesSSM071, SSM027, SSM024, SSM075, SSM045, SSM046, SSM011, SSM087, SSM097, SSM039, SSM088, SSM041, SSM028, SSM029, SSM096, SSM026, SSM089, SSM032, SSM003, SSM031, SSM014, SSM086, SSM072, SSM078, SSM080, SSM077, SSM076, SSM022, SSM034, SSM043
Known GenesATP2B2
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)esv2724897
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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