A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6697004



Internal ID9764814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:37611590..37611969hg38UCSC Ensembl
Outerchr1:38077191..38077641hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg38380
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747208
Supporting Variants
SamplesSSM038
Known GenesRSPO1
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)essv6697004
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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