A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25798680



Internal ID18827412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:6996928..7981438hg38UCSC Ensembl
Innerchr6:6997161..7981671hg19UCSC Ensembl
Innerchr6:6942160..7926670hg18UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg38984511
hg19984511
hg18984511
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3890787
Supporting Variants
Samples
Known GenesBLOC1S5-TXNDC5, BMP6, CAGE1, DSP, RIOK1, RREB1, SNRNP48, SSR1, TXNDC5
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=270
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25798680
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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