A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738095



Internal ID10321731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:69238327..69238714hg38UCSC Ensembl
Outerchr10:70998083..70998470hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38388
hg19388
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6948764, essv6795726, essv6879285, essv6702134, essv6862025, essv6695237, essv6819352, essv6731822, essv6863331, essv6677532, essv6709258, essv6944584, essv6866770, essv6823339, essv6827397, essv6834634, essv6891008, essv6672684, essv6958765, essv6882107, essv6908572, essv6838340, essv6684834, essv6887781, essv6688056, essv6976611, essv6809158, essv6720400, essv6965300, essv6884891, essv6900413, essv6856737, essv6850717, essv6812005
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM041, SSM023, SSM047, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM044, SSM014, SSM086, SSM082, SSM078, SSM080, SSM037, SSM076, SSM095, SSM034
Known GenesHKDC1
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)esv2738095
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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