A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12979509



Internal ID2663188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:137008406..137010135hg38UCSC Ensembl
Innerchr7:137008406..137010135hg38UCSC Ensembl
Outerchr7:137008290..137010232hg38UCSC Ensembl
chr7:136693153..136694882hg19UCSC Ensembl
Innerchr7:136693153..136694882hg19UCSC Ensembl
Outerchr7:136693037..136694979hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg381730
hg191730
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615160
Supporting Variants
SamplesHG02356
Known GenesCHRM2, LOC349160
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12979509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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