A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12845629



Internal ID6081799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:75121909..75144798hg38UCSC Ensembl
Innerchr7:75121909..75144798hg38UCSC Ensembl
Outerchr7:75121409..75145298hg38UCSC Ensembl
chr7:74537710..74560605hg19UCSC Ensembl
Innerchr7:74537710..74560605hg19UCSC Ensembl
Outerchr7:74537210..74561105hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3822890
hg1922896
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613720
Supporting Variants
SamplesNA19466
Known GenesGTF2IRD2, GTF2IRD2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12845629
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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