A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890787



Internal ID18838403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:6996928..7981438hg38UCSC Ensembl
Outerchr6:6996928..7981438hg38UCSC Ensembl
Innerchr6:6997161..7981671hg19UCSC Ensembl
Outerchr6:6997161..7981671hg19UCSC Ensembl
Innerchr6:6942160..7926670hg18UCSC Ensembl
Outerchr6:6942160..7926670hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38984511
hg19984511
hg18984511
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25798680
Samples
Known GenesBLOC1S5-TXNDC5, BMP6, CAGE1, DSP, RIOK1, RREB1, SNRNP48, SSR1, TXNDC5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890787
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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