A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738351



Internal ID9972691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:30393858..30689754hg38UCSC Ensembl
Outerchr9:30393856..30689752hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38295897
hg19295897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775250, essv6912080, essv6944354, essv6897282, essv6881972, essv6709092, essv6866506, essv6861631, essv6823141, essv6861778, essv6976201, essv6964957, essv6695007, essv6894214, essv6771567, essv6672333, essv6838157, essv6890849, essv6716273, essv6904448, essv6834456, essv6850389, essv6908365, essv6856405, essv6819096, essv6724002, essv6900267, essv6958375, essv6806005, essv6687887, essv6827196, essv6923798, essv6768125, essv6884759, essv6749307, essv6811863
SamplesSSM100, SSM083, SSM027, SSM045, SSM011, SSM064, SSM079, SSM065, SSM087, SSM097, SSM013, SSM074, SSM088, SSM041, SSM023, SSM018, SSM029, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM086, SSM066, SSM082, SSM015, SSM078, SSM080, SSM037, SSM076, SSM095, SSM099, SSM043, SSM098, SSM056
Known GenesLOC401497
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)esv2738351
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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