A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741917



Internal ID10296033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7499116..7500003hg38UCSC Ensembl
Outerchr1:7559176..7560063hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg38888
hg19888
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937664, essv6821167, essv6941769, essv6950095, essv6895837, essv6686145, essv6668924, essv6921702, essv6836180, essv6710569, essv6898596, essv6937665, essv6898601, essv6902517, essv6753483, essv6925677
SamplesSSM100, SSM083, SSM079, SSM013, SSM042, SSM023, SSM058, SSM018, SSM019, SSM035, SSM031, SSM022, SSM004, SSM099
Known GenesCAMTA1
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)esv2741917
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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