A curated catalogue of human genomic structural variation




Variant Details

Variant: essv25782604



Internal ID18817200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:1534767..1554022hg38UCSC Ensembl
Innerchr7:1574403..1593658hg19UCSC Ensembl
Innerchr7:1540929..1560184hg18UCSC Ensembl
Cytoband7p22.3
Allele length
AssemblyAllele length
hg3819256
hg1919256
hg1819256
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3891010
Supporting Variants
Samples
Known GenesMAFK, TMEM184A
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
CommentsNumber of probes=5
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)essv25782604
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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