A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6958711



Internal ID9720525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:27447765..29432048hg38UCSC Ensembl
Outerchr10:27736694..29720977hg19UCSC Ensembl
Cytoband10p11.23
Allele length
AssemblyAllele length
hg381984284
hg191984284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734606
Supporting Variants
SamplesSSM026
Known GenesARMC4, BAMBI, C10orf126, LINC00837, LYZL1, MIR5586, MIR8086, MKX, MPP7, PTCHD3P1, RAB18, WAC, WAC-AS1
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)essv6958711
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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