A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12742807



Internal ID1648467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38359349..38362052hg38UCSC Ensembl
Innerchr7:38359384..38362017hg38UCSC Ensembl
Outerchr7:38359314..38362087hg38UCSC Ensembl
chr7:38398950..38401653hg19UCSC Ensembl
Innerchr7:38398985..38401618hg19UCSC Ensembl
Outerchr7:38398915..38401688hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg382704
hg192704
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3612880
Supporting Variants
SamplesHG01516
Known GenesTRG-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12742807
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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