A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743853



Internal ID9978137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12811195..12933481hg38UCSC Ensembl
Outerchr1:12871334..12993311hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38122287
hg19121978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669166, essv6917420, essv6950547, essv6863951, essv6764156, essv6784532, essv6843798, essv6807370, essv6847008, essv6747772, essv6742134, essv6793278, essv6668942, essv6910037, essv6675195
SamplesSSM053, SSM086, SSM089, SSM031, SSM025, SSM071, SSM032, SSM005, SSM056, SSM017, SSM009, SSM011, SSM063, SSM075, SSM015
Known GenesHNRNPCL1, LOC649330, PRAMEF10, PRAMEF11, PRAMEF2, PRAMEF4, PRAMEF7, PRAMEF8
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)esv2743853
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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