A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12845474



Internal ID2847290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:74582018..74584964hg38UCSC Ensembl
Innerchr7:74582034..74584949hg38UCSC Ensembl
Outerchr7:74582003..74584980hg38UCSC Ensembl
chr7:73996347..73999293hg19UCSC Ensembl
Innerchr7:73996363..73999278hg19UCSC Ensembl
Outerchr7:73996332..73999309hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382947
hg192947
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613714
Supporting Variants
SamplesHG02888
Known GenesGTF2IRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12845474
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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