A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613712



Internal ID6653921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74567576..74569084hg38UCSC Ensembl
Innerchr7:74567576..74569084hg38UCSC Ensembl
Outerchr7:74567331..74569348hg38UCSC Ensembl
chr7:73981906..73983414hg19UCSC Ensembl
Innerchr7:73981906..73983414hg19UCSC Ensembl
Outerchr7:73981661..73983678hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg381509
hg191509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12845472, essv12845466, essv12845468, essv12845469, essv12845471, essv12845467, essv12845470
SamplesHG00313, NA18559, NA07048, NA19332, HG00513, NA19391, NA20870
Known GenesGTF2IRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613712
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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