A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749252



Internal ID10330222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:65613419..65613729hg38UCSC Ensembl
Outerchr1:66079102..66079412hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38311
hg19311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710636, essv6946537, essv6921776, essv6785036, essv6816630, essv6797501, essv6972436, essv6821230, essv6853301, essv6718197, essv6697018, essv6829048, essv6906134, essv6880455, essv6675243, essv6679216, essv6871749, essv6793339, essv6886013, essv6844221, essv6776975, essv6832638, essv6864005, essv6961636, essv6810372, essv6868748, essv6847089
SamplesSSM071, SSM027, SSM024, SSM011, SSM079, SSM087, SSM038, SSM042, SSM090, SSM018, SSM069, SSM029, SSM096, SSM089, SSM094, SSM032, SSM067, SSM044, SSM014, SSM086, SSM033, SSM081, SSM072, SSM082, SSM078, SSM076, SSM091
Known GenesLEPR
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)esv2749252
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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