A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12757572



Internal ID1054638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:45756615..45795745hg38UCSC Ensembl
Innerchr7:45756665..45795695hg38UCSC Ensembl
Outerchr7:45756565..45795795hg38UCSC Ensembl
chr7:45796214..45835344hg19UCSC Ensembl
Innerchr7:45796264..45835294hg19UCSC Ensembl
Outerchr7:45796164..45835394hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3839131
hg1939131
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613030
Supporting Variants
SamplesHG00675
Known GenesSEPT7P2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12757572
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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