A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1249e214



Internal ID22757143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4861563..4973875hg38UCSC Ensembl
chr7:4901194..5013506hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg38112313
hg19112313
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3611953, esv3611951
SamplesNA19917, HG01491
Known GenesMMD2, PAPOLB, RADIL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1249e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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