A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965158



Internal ID9723591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1326843..1327016hg38UCSC Ensembl
Outerchr10:1369038..1369211hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729684, esv2729673, esv2729707, esv2729696
Supporting Variants
SamplesSSM027
Known GenesADARB2
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)essv6965158
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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