A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740829



Internal ID9975172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110719995..110720968hg38UCSC Ensembl
Outerchr10:112479753..112480726hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg38974
hg19974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775465, essv6912328, essv6940049, essv6668074, essv6799937, essv6779201, essv6976675, essv6691383, essv6894428, essv6896898, essv6695275, essv6771804, essv6969240, essv6856790, essv6931554, essv6705982, essv6863598, essv6882138, essv6795762, essv6827437, essv6787497, essv6948800, essv6823374, essv6677567, essv6924067
SamplesSSM065, SSM022, SSM036, SSM040, SSM072, SSM020, SSM071, SSM032, SSM024, SSM067, SSM094, SSM012, SSM011, SSM066, SSM029, SSM030, SSM069, SSM037, SSM087, SSM079, SSM004, SSM015, SSM098, SSM018, SSM080
Known GenesRBM20
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)esv2740829
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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