A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12671545



Internal ID913231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:4898708..4900118hg38UCSC Ensembl
Innerchr7:4898727..4900100hg38UCSC Ensembl
Outerchr7:4898690..4900137hg38UCSC Ensembl
chr7:4938339..4939749hg19UCSC Ensembl
Innerchr7:4938358..4939731hg19UCSC Ensembl
Outerchr7:4938321..4939768hg19UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611956
Supporting Variants
SamplesHG00536
Known GenesMMD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12671545
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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