A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613711



Internal ID6653920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74533125..74547032hg38UCSC Ensembl
Innerchr7:74533125..74547032hg38UCSC Ensembl
Outerchr7:74532625..74547532hg38UCSC Ensembl
chr7:73947455..73961362hg19UCSC Ensembl
Innerchr7:73947455..73961362hg19UCSC Ensembl
Outerchr7:73946955..73961862hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3813908
hg1913908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12845464, essv12845465
SamplesHG00342, NA19917
Known GenesGTF2IRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613711
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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