A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613713



Internal ID6653922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74574157..74576638hg38UCSC Ensembl
Innerchr7:74574159..74576637hg38UCSC Ensembl
Outerchr7:74574156..74576640hg38UCSC Ensembl
chr7:73988487..73990968hg19UCSC Ensembl
Innerchr7:73988489..73990967hg19UCSC Ensembl
Outerchr7:73988486..73990970hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382482
hg192482
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12845473
SamplesHG02332
Known GenesGTF2IRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613713
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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