A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6875826



Internal ID9925040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149681997..149764932hg38UCSC Ensembl
Outerchr6:150003133..150086068hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg3882936
hg1982936
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2732861
Supporting Variants
SamplesSSM092
Known GenesLATS1, NUP43, PCMT1
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)essv6875826
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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