A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585857



Internal ID750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2754560..2755024hg38UCSC Ensembl
Outerchr6:2748283..2758967hg38UCSC Ensembl
Innerchr6:2754794..2755258hg19UCSC Ensembl
Outerchr6:2748517..2759201hg19UCSC Ensembl
Innerchr6:2699793..2700257hg18UCSC Ensembl
Outerchr6:2693516..2704200hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3810685
hg1910685
hg1810685
Variant TypeCNV loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv274995
Supporting Variants
Samples
Known GenesMYLK4
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)essv2585857
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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