A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719840



Internal ID10303476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178505469..178505938hg38UCSC Ensembl
Outerchr1:178474604..178475073hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954953, essv6859347, essv6868818, essv6961760, essv6703961, essv6781009, essv6669160, essv6914102, essv6877887, essv6801726, essv6853435, essv6707363, essv6972590, essv6773567, essv6917568, essv6753615, essv6729748, essv6725984
SamplesSSM027, SSM046, SSM087, SSM073, SSM088, SSM041, SSM058, SSM090, SSM047, SSM029, SSM026, SSM017, SSM031, SSM066, SSM068, SSM040, SSM016, SSM012
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)esv2719840
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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