A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12975582



Internal ID2491171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:134811203..134819498hg38UCSC Ensembl
Innerchr7:134811203..134819498hg38UCSC Ensembl
Outerchr7:134810937..134819705hg38UCSC Ensembl
chr7:134495954..134504249hg19UCSC Ensembl
Innerchr7:134495954..134504249hg19UCSC Ensembl
Outerchr7:134495688..134504456hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg388296
hg198296
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615105
Supporting Variants
SamplesHG02190
Known GenesCALD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12975582
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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