A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12840962



Internal ID2192920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:72942881..73297976hg38UCSC Ensembl
Innerchr7:72943381..73297476hg38UCSC Ensembl
Outerchr7:72941881..73298976hg38UCSC Ensembl
chr7:72413420..72711976hg19UCSC Ensembl
Innerchr7:72413920..72711476hg19UCSC Ensembl
Outerchr7:72412420..72712976hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38355096
hg19298557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613678
Supporting Variants
SamplesHG01977
Known GenesGTF2IP1, LOC100093631, LOC100101148, LOC541473, NCF1B, NSUN5P2, PMS2L2, PMS2P5, POM121, SPDYE8P, STAG3L1, STAG3L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12840962
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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