A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612075



Internal ID6998977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7347896..7393238hg38UCSC Ensembl
Innerchr7:7347896..7393238hg38UCSC Ensembl
Outerchr7:7347396..7393738hg38UCSC Ensembl
chr7:7387527..7432869hg19UCSC Ensembl
Innerchr7:7387527..7432869hg19UCSC Ensembl
Outerchr7:7387027..7433369hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg3845343
hg1945343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12674627, essv12674630, essv12674629, essv12674628
SamplesHG02973, NA19099, HG02255, HG03401
Known GenesCOL28A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612075
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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