A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954781



Internal ID10063675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36958650..36960097hg38UCSC Ensembl
Outerchr1:37424251..37425698hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg381448
hg191448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747118, esv2747063, esv2747085
Supporting Variants
SamplesSSM026
Known GenesGRIK3
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)essv6954781
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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