A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659353



Internal ID9578772
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314405..147315503hg38UCSC Ensembl
chr7:147011497..147012595hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381099
hg191099
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1246e199
Supporting Variantsessv5575463, essv5732465, essv5673045, essv5969573, essv6200192, essv6355246, essv6588225, essv6136755, essv6346082, essv5777387, essv5721962, essv5562405, essv5813264, essv6565278, essv6590302, essv6309352, essv5834508
SamplesHG00323, HG01072, HG01079, HG00553, HG00139, HG00335, NA12341, NA20533, HG01061, HG00268, HG00246, NA20813, NA12546, NA19655, HG01125, HG00320, HG01462
Known GenesCNTNAP2, MIR548I4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659353
Frequency
Sample Size1151
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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