A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3891032



Internal ID18838742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7000545..7521949hg38UCSC Ensembl
Outerchr7:6831004..7533810hg38UCSC Ensembl
Innerchr7:7040176..7561580hg19UCSC Ensembl
Outerchr7:6870635..7573441hg19UCSC Ensembl
Innerchr7:7006701..7528105hg18UCSC Ensembl
Outerchr7:6837160..7539966hg18UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38702807
hg19702807
hg18702807
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792101, essv25792500
Samples
Known GenesC1GALT1, COL28A1, LOC100131257, LOC101927354
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3891032
Frequency
Sample Size3017
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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