A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615377



Internal ID6655576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146587355..146591025hg38UCSC Ensembl
Innerchr7:146587388..146590992hg38UCSC Ensembl
Outerchr7:146587322..146591058hg38UCSC Ensembl
chr7:146284447..146288117hg19UCSC Ensembl
Innerchr7:146284480..146288084hg19UCSC Ensembl
Outerchr7:146284414..146288150hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg383671
hg193671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12997758, essv12997759
SamplesHG03814, NA20863
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615377
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer