A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738251



Internal ID9972591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:71296470..71297110hg38UCSC Ensembl
Outerchr10:73056227..73056867hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38641
hg19641
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6876445, essv6940019, essv6728048, essv6815199, essv6968951, essv6896587, essv6970479, essv6976615, essv6965305, essv6919852, essv6803443, essv6948767, essv6827401, essv6705949, essv6850723, essv6775439, essv6935810, essv6936507, essv6702140, essv6952915, essv6924028, essv6856740
SamplesSSM022, SSM027, SSM092, SSM086, SSM040, SSM025, SSM039, SSM024, SSM077, SSM012, SSM017, SSM009, SSM066, SSM028, SSM029, SSM003, SSM021, SSM087, SSM046, SSM004, SSM018, SSM080
Known GenesUNC5B
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)esv2738251
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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