A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738576



Internal ID10322212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:76121785..76122128hg38UCSC Ensembl
Outerchr9:78736701..78737044hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6698443, essv6727880, essv6965003, essv6850441, essv6861810, essv6887645, essv6787259, essv6866547, essv6712585, essv6815048, essv6799725, essv6684310, essv6705786, essv6948576, essv6724037, essv6838182, essv6795542, essv6677351, essv6912119, essv6890873, essv6684683, essv6783032, essv6856460, essv6823178, essv6958423, essv6834481, essv6879166, essv6672390
SamplesSSM083, SSM071, SSM027, SSM024, SSM045, SSM046, SSM079, SSM087, SSM038, SSM097, SSM093, SSM042, SSM088, SSM069, SSM096, SSM026, SSM089, SSM032, SSM031, SSM086, SSM068, SSM040, SSM072, SSM082, SSM015, SSM005, SSM077, SSM034
Known GenesPCSK5
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)esv2738576
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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