A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740884



Internal ID10295000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:111446281..111600270hg38UCSC Ensembl
Outerchr10:113206039..113360028hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38153990
hg19153990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6769542, essv6779202, essv6873489, essv6976676, essv6965353, essv6940050, essv6823375, essv6740840, essv6931555, essv6970514, essv6952943, essv6936874, essv6924069, essv6672737, essv6731858, essv6702186, essv6695276
SamplesSSM008, SSM027, SSM079, SSM039, SSM028, SSM047, SSM018, SSM029, SSM003, SSM031, SSM067, SSM020, SSM037, SSM022, SSM091, SSM025, SSM052
Known Genes
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)esv2740884
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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