A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12890526



Internal ID2892342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:92473407..92476200hg38UCSC Ensembl
Innerchr7:92473451..92476157hg38UCSC Ensembl
Outerchr7:92473364..92476244hg38UCSC Ensembl
chr7:92102721..92105514hg19UCSC Ensembl
Innerchr7:92102765..92105471hg19UCSC Ensembl
Outerchr7:92102678..92105558hg19UCSC Ensembl
Cytoband7q21.2
Allele length
AssemblyAllele length
hg382794
hg192794
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3614140
Supporting Variants
SamplesHG00112
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12890526
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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